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Last uploaded:
September 25, 2013
| Id | http://purl.bioontology.org/ontology/CSP/4006-0058
http://purl.bioontology.org/ontology/CSP/4006-0058
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|---|---|
| Preferred Name | Li Fraumeni syndrome |
| Definitions |
rare autosomal dominant syndrome characterized by mesenchymal and epithelial neoplasms at multiple sites; a point mutation of the p53 tumor suppressor gene apparently predisposes family members who inherit it to develop certain cancers including early breast carcinoma; associated with soft tissue sarcomas and other tumors.
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | rare autosomal dominant syndrome characterized by mesenchymal and epithelial neoplasms at multiple sites; a point mutation of the p53 tumor suppressor gene apparently predisposes family members who inherit it to develop certain cancers including early breast carcinoma; associated with soft tissue sarcomas and other tumors. |
|---|---|
| prefLabel | Li Fraumeni syndrome
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| Inverse of RO | |
| type | |
| tui | T047
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| notation | 4006-0058
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| Semantic type UMLS property | |
| DID | 4006-0058
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| cui | C0085390
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| Inverse of RB | |
| subClassOf |
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